ClinVar Miner

Submissions for variant NM_001278064.2(GRM1):c.2909C>T (p.Pro970Leu)

gnomAD frequency: 0.00003  dbSNP: rs1432380664
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001816445 SCV002062709 uncertain significance not provided 2021-10-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001816445 SCV002770652 uncertain significance not provided 2021-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506845 SCV002815776 uncertain significance Autosomal recessive spinocerebellar ataxia 13; Spinocerebellar ataxia 44 2022-03-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002541521 SCV003721691 uncertain significance Inborn genetic diseases 2022-03-04 criteria provided, single submitter clinical testing The c.2909C>T (p.P970L) alteration is located in exon 9 (coding exon 8) of the GRM1 gene. This alteration results from a C to T substitution at nucleotide position 2909, causing the proline (P) at amino acid position 970 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.